DOCK1

Chr 10

dedicator of cytokinesis 1

Also known as: DOCK180, ced5

NCBI Gene: 1793 ENSG00000150760 UniProt: Q14185 OMIM: 601403

This protein functions as a guanine nucleotide exchange factor that activates Rac GTPases, regulating cytoskeletal rearrangements essential for phagocytosis and cell migration. Mutations cause autosomal recessive combined immunodeficiency characterized by severe infections due to defective phagocytosis and impaired immune cell function. The gene is highly constrained against loss-of-function variants (LOEUF 0.341), reflecting its critical role in immune system development and function.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of the dedicator of cytokinesis protein family. Dedicator of cytokinesis proteins act as guanine nucleotide exchange factors for small Rho family G proteins. The encoded protein regulates the small GTPase Rac, thereby influencing several biological processes, including phagocytosis and cell migration. Overexpression of this gene has also been associated with certain cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.34

LOEUF· LoF intol.

Multiple*

Mechanism· predicted